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    AQP2 aquaporin 2 [ Homo sapiens (human) ]

    Gene ID: 359, updated on 5-Nov-2017
    Official Symbol
    AQP2provided by HGNC
    Official Full Name
    aquaporin 2provided by HGNC
    Primary source
    HGNC:HGNC:634
    See related
    Ensembl:ENSG00000167580 MIM:107777; Vega:OTTHUMG00000169709
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AQP-CD; WCH-CD
    Summary
    This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
    Expression
    Restricted expression toward kidney (RPKM 245.3) See more
    Orthologs
    Location:
    12q13.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (49950741..49958881)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50344524..50352664)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2395 Neighboring gene uncharacterized LOC105369763 Neighboring gene uncharacterized LOC101927318 Neighboring gene uncharacterized LOC105369764 Neighboring gene aquaporin 5 Neighboring gene uncharacterized LOC102723963 Neighboring gene aquaporin 6

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC34501

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glycerol transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    water channel activity EXP
    Inferred from Experiment
    more info
    PubMed 
    water channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    water transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to copper ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to mercury ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to water deprivation IEA
    Inferred from Electronic Annotation
    more info
     
    excretion TAS
    Traceable Author Statement
    more info
    PubMed 
    glycerol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metanephric collecting duct development IEA
    Inferred from Electronic Annotation
    more info
     
    renal water homeostasis TAS
    Traceable Author Statement
    more info
     
    renal water transport IEA
    Inferred from Electronic Annotation
    more info
     
    water transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    water transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    recycling endosome IEA
    Inferred from Electronic Annotation
    more info
     
    transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    aquaporin-2
    Names
    ADH water channel
    AQP-2
    aquaporin 2 (collecting duct)
    aquaporin-CD
    collecting duct water channel protein
    water channel protein for renal collecting duct
    water-channel aquaporin 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008913.1 RefSeqGene

      Range
      5001..13141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_717

    mRNA and Protein(s)

    1. NM_000486.5NP_000477.1  aquaporin-2

      See identical proteins and their annotated locations for NP_000477.1

      Status: REVIEWED

      Source sequence(s)
      AC025154, AI792401, AK225940, BC042496
      Consensus CDS
      CCDS8792.1
      UniProtKB/Swiss-Prot
      P41181
      Related
      ENSP00000199280.3, OTTHUMP00000241926, ENST00000199280.3, OTTHUMT00000405540
      Conserved Domains (1) summary
      pfam00230
      Location:3219
      MIP; Major intrinsic protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      49950741..49958881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      50310689..50318825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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